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FAM154A Gene

protein-coding   GIFtS: 44
GCID: GC09M018920

Family With Sequence Similarity 154, Member A

(Previous name: chromosome 9 open reading frame 138)
(Previous symbol: C9orf138)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Family With Sequence Similarity 154, Member A1 2
C9orf1381 2 3
Chromosome 9 Open Reading Frame 1381
4930500O09Rik2
Protein FAM154A2

External Ids:    HGNC: 285661   Entrez Gene: 1582972   Ensembl: ENSG000001558757   UniProtKB: Q8IYX73   

Export aliases for FAM154A gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FAM154A Gene:
FAM154A (family with sequence similarity 154, member A) is a protein-coding gene. Diseases associated with FAM154A include lung cancer. An important paralog of this gene is FAM154B.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the FAM154A gene promoter:
         AML1a   Egr-1   FOXO3   CUTL1   Arnt   FOXO3a   Cart-1   Pax-4a   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM154A promoter sequence
   Search Chromatin IP Primers for FAM154A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM154A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p22.1   Ensembl cytogenetic band:  9p22.1   HGNC cytogenetic band: 9p22.1

FAM154A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM154A gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M018920:  view genomic region     (about GC identifiers)

Start:
18,927,656 bp from pter      End:
19,033,256 bp from pter
Size:
105,601 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: F154A_HUMAN, Q8IYX7 (See protein sequence)
Recommended Name: Protein FAM154A  
Size: 474 amino acids; 54621 Da
Secondary accessions: Q5VY58

Explore the universe of human proteins at neXtProt for FAM154A: NX_Q8IYX7

Explore proteomics data for FAM154A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM154A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001273978.1  NP_001273979.1  NP_714918.2  

    ENSEMBL proteins: 
     ENSP00000369907   ENSP00000369902   ENSP00000438823  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR024963 MAP6/FAM154

    Graphical View of Domain Structure for InterPro Entry Q8IYX7

    ProtoNet protein and cluster: Q8IYX7

    UniProtKB/Swiss-Prot: F154A_HUMAN, Q8IYX7
    Similarity: Belongs to the FAM154 family


    FAM154A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    FAM154A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FAM154A:
     Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM154A
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    miRNA
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    1 qRT-PCR Assays for microRNA that regulate FAM154A:
    hsa-miR-548n
    SwitchGear 3'UTR luciferase reporter plasmidFAM154A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FAM154A
    Predesigned siRNA for gene silencing in human, mouse, rat FAM154A

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    GenScript: all cDNA clones in your preferred vector: FAM154A (NM_153707)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM154A

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM154A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    extracellular2
    cytoskeleton1
    nucleus1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FAM154A
    Interactions:

        Search GeneGlobe Interaction Network for FAM154A

    1 Interacting protein for FAM154A (Q8IYX71) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    Hoxa1P090221EBI-3957636,EBI-3957603
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FAM154A (F154A)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FAM154A gene (3 alternative transcripts): 
    NM_001287049.1  NM_001287050.1  NM_153707.3  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380534(uc003zni.2) ENST00000380530 ENST00000583128 ENST00000542071(uc010mip.2)

    miRNA
    Products:
         
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    1 qRT-PCR Assays for microRNA that regulate FAM154A:
    hsa-miR-548n
    SwitchGear 3'UTR luciferase reporter plasmidFAM154A 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for FAM154A
    Predesigned siRNA for gene silencing in human, mouse, rat FAM154A
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM154A
      QuantiTect SYBR Green Assays in human, mouse, rat FAM154A
      QuantiFast Probe-based Assays in human, mouse, rat FAM154A

    Selected AceView cDNA sequences (see all 25):

    AW274676 AA629329 BM563230 NM_153707 AK057474 AA442292 AI014701 BI831917 
    AA774548 BX119445 BI826610 AW079914 AA868582 AA992255 BC033489 AA634496 
    AA907910 BI462463 AI208210 AA437228 AI183957 AA758280 AI192031 AI808568 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for FAM154A    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7
    SP1:                    -     -                 -               
    SP2:                                                            
    SP3:                    -     -                 -     -         
    SP4:                    -     -                                 


    ECgene alternative splicing isoforms for FAM154A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FAM154A expression in normal human tissues (normalized intensities)      FAM154A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCACAGAGC
    FAM154A Expression
    About this image


    FAM154A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             Secondary Oocyte Antral Follicle
     
     Gonad
             Secondary Oocyte Antral Follicle
     
     Testis (Reproductive System)
    FAM154A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM154A Protein Expression
        Custom PCR Arrays for FAM154A
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for FAM154A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM154A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM154A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FAM154A gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam154a1 , 5 family with sequence similarity 154, member A1, 5 76.39(n)1
    66.17(a)1
      4 (40.69 cM)5
    758111  NM_001081096.11  NP_001074565.11 
     864446415 
    chicken
    (Gallus gallus)
    Aves FAM154A1 family with sequence similarity 154, member A 58.56(n)
    47.75(a)
      101751429  XM_004949145.1  XP_004949202.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T08G11.31 T08G11.3 39.94(n)
    26.09(a)
      188307  NM_060002.3  NP_492403.2 


    ENSEMBL Gene Tree for FAM154A (if available)
    TreeFam Gene Tree for FAM154A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM154A gene
    FAM154B2  
    2 SIMAP similar genes for FAM154A using alignment to 3 protein entries:     F154A_HUMAN (see all proteins):
    C9orf138    FAM154B

    FAM154A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FAM154A (see all 3443)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs7551681,2
    C,F,O,A,H--18927464(+) TTGCTC/G/TGTATG 1 -- int116NA EA NS CSA WA 1038
    rs1845617101,2
    --18927583(+) CAATGC/GGGGTG 1 -- int10--------
    rs1152908971,2
    C,F--18927641(+) GCATAG/ACCAGC 1 -- int11Minor allele frequency- A:0.03WA 118
    rs9454421,2
    C,F,O,A,H--18927768(+) AGAAAA/CCCTCA 1 -- int1 ese331Minor allele frequency- C:0.31MN NA NS EA WA CSA 3100
    rs9454431,2
    C,F,O,A,H--18927818(+) TGAAAC/TGGGGT 1 -- int1 ese311Minor allele frequency- T:0.03MN NS EA NA 1566
    rs10524621,2
    C,F--18927821(-) CCCACC/ACCGTT 1 -- int1 ese35Minor allele frequency- A:0.16MN NA CSA WA 427
    rs1881771381,2
    --18927864(+) TTAGCA/CGGTGA 1 -- int10--------
    rs38398811,2
    C--18927886(-) GACTC-/AGGGAAA 1 -- int10--------
    rs10524481,2
    C,F,O,A,H--18928039(-) AAAAAT/CAGTAA 1 -- ut3126Minor allele frequency- C:0.15MN NA NS EA EU 4005
    rs355621171,2
    C,F--18928083(-) GAAAAC/ACCCAA 2 /K /N mis15Minor allele frequency- A:0.03NA CSA WA EA 4848

    HapMap Linkage Disequilibrium report for FAM154A (18927656 - 19033256 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FAM154A (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664528CNV Deletion23128226
    esv2342287CNV Deletion18987734
    esv2437751CNV Deletion19546169
    nsv519384CNV Loss19592680
    nsv471289CNV Loss18288195
    nsv510186CNV Loss20534489
    nsv526254CNV Loss19592680
    nsv510187CNV Loss20534489
    nsv519909CNV Loss19592680
    nsv466282CNV Loss19166990

    Human Gene Mutation Database (HGMD): FAM154A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAM154A
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM154A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for FAM154A:    About MalaCards
    lung cancer


    FAM154A for disorders           About GeneDecksing

    Genetic Association Database (GAD): FAM154A
    Human Genome Epidemiology (HuGE) Navigator: FAM154A (1 document)

    Export disorders for FAM154A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FAM154A gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM154A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study. (PubMed id 23144319)1 Lee Y....Lee J.S. (Carcinogenesis 2013)
    6. Protein interactions of the transcription factor Hoxa1. (PubMed id 23088713)1 Lambert B....Rezsohazy R. (BMC Dev. Biol. 2012)
    7. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (BMC Med. Genet. 2007)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 158297 HGNC: 28566 AceView: C9orf138 Ensembl:ENSG00000155875 euGenes: HUgn158297
    ECgene: FAM154A H-InvDB: FAM154A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FAM154A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FAM154A gene:
    Search GeneIP for patents involving FAM154A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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